If you are wondering what these are, you may want to review a recent consensus statement (JPGN 2013; 57: 677-86).
This ‘practical guide’ discusses Hirschsprung’s disease, intestinal neuronal dysplasia, chronic intestinal pseudo-obstruction, ultrashort segment Hirschsprung’s disease, hypoganglionosis, and ganglioneuromatosis in MEN 2B.
Most of the focus is on Hirschsprung’s disease including the intricacies of diagnosis, clinical presentation, and genetics. While the authors do mention the PHOX2B gene and others, there is not a discussion of Ondine’s curse (Congenital central hypoventilation syndrome and Hirschsprung’s …). One point that I think is important (but not discussed in the above reference) in patients who have Ondine’s curse and Hirschsprung’s is determining whether a family member may have a milder phenotype that could still place them at risk for sudden death (eg. after a simple sedation procedure).
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